MCID: MCR367
MIFTS: 15

Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

MalaCards integrated aliases for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome:

Name: Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 60

Classifications:



Summaries for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

MalaCards based summary : Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome An important gene associated with Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome is ADAMTSL1 (ADAMTS Like 1). Affiliated tissues include thyroid and kidney, and related phenotypes are mandibular prognathia and macrotia

Related Diseases for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Symptoms & Phenotypes for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Human phenotypes related to Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
2 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
3 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
4 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
5 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
6 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
7 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
8 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
9 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
10 buphthalmos 60 33 frequent (33%) Frequent (79-30%) HP:0000557
11 nephrolithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0000787
12 tented upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0010804
13 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
14 prominent metopic ridge 60 33 frequent (33%) Frequent (79-30%) HP:0005487
15 thyroid hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0005990
16 congenital hypothyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000851
17 bilateral sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008619
18 rieger anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000558
19 calcaneovalgus deformity 60 33 frequent (33%) Frequent (79-30%) HP:0001848
20 delayed eruption of permanent teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000696
21 delayed myelination 60 33 frequent (33%) Frequent (79-30%) HP:0012448
22 square face 60 33 frequent (33%) Frequent (79-30%) HP:0000321
23 primary congenital glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0008007
24 abnormality of the palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0010490
25 vertebrobasilar dolichoectasia 60 33 frequent (33%) Frequent (79-30%) HP:0020038
26 abnormality of the kidney 60 Frequent (79-30%)
27 long fingers 60 Frequent (79-30%)

Drugs & Therapeutics for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Search Clinical Trials , NIH Clinical Center for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome

Genetic Tests for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Anatomical Context for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

MalaCards organs/tissues related to Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome:

42
Thyroid, Kidney

Publications for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Variations for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Expression for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Search GEO for disease gene expression data for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome.

Pathways for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

GO Terms for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

Sources for Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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